We know that you are having so many emotions if you have just received a confirmed or suspected diagnosis that your baby will have Down syndrome. We can provide you with information and support so you'll be ready to celebrate the birthday of your baby.

There are many different types of prenatal
tests for Down syndrome. In order to best understand what the results
mean for you and your pregnancy, it is important to understand which
type of test that you received :

The “triple screen,” “quadruple screen,” “first trimester combined
screen,” “integrated screen,” and “contingency screen” are all different
types of prenatal screening tests that involve, to varying degrees,
blood work and ultrasound findings. These screening tests provide you a
risk assessment, not a diagnosis, and the results should be communicated
as such. In other words, you should not be told that your child is
“positive” or “negative” for Down syndrome. Instead, the results
indicate the probability (or degree of chance) that your child will have
Down syndrome. For example, you might be told that your child has a 1
in 300 chance of having Down syndrome. It is important to realize that
different people can interpret probabilities in very different ways.

Current Down syndrome prenatal screening results are anywhere from 65 to 95 percent accurate depending on the exact test.

A new noninvasive prenatal test involving cell-free DNA is now
commercially available. This also is a blood test that can be performed
as early as 10 weeks gestation. These results are delivered as a
“positive” or “negative,” although it is important to understand that
these tests are 99% accurate. This means that expectant mothers who
receive a “positive” result, have about a 1% chance of not having a
child with Down syndrome; expectant mothers who receive a “negative”
result, have about a 1% chance of actually having a child with Down
syndrome. If expectant mothers with to confirm these results, physicians
recommend that expectant mothers proceed with a CVS or amniocentesis.

Determining with virtual certainty that your child has Down syndrome
requires an invasive test, where a needle is inserted into the pregnant
abdomen. Usually administered after the 15th week of pregnancy, an
“amniocentesis” analyzes a uterine fluid sample, which contains fetal
cells. The chromosomes of these cells can be tested to determine whether
Down syndrome is present. Administered usually 10 to 14 weeks into the
pregnancy, “chorionic villus sampling” or “CVS” analyzes fetal cells
like in an amniocentesis, but using placental not uterine fluid. Both
these tests carry a small risk of miscarriage.

If you have received prenatal tests that suggest or confirm Down
syndrome, remember that the DSAGC is here for you – with accurate,
up-to-date information and the opportunity to speak with a parent mentor
through our Parents’ First Call Program. See below for details.

Parent's First Call ProgramFor
expectant parents of children with Down syndrome, any opportunity to
speak with other parents who have experienced what you are experiencing
can be invaluable. The DSAGC's Parent First Call program
is a volunteer group of trained parent mentors available
24/7 to listen, share, answer questions, and provide valuable
information. If you would like to speak with a First Call parent who
also received a prenatal diagnosis, please call 704-916-9871 or
e-mail tleyton@dsa-gc.org.

National booklet “Understanding a Down Syndrome Diagnosis”The
2011 edition of “Understanding a Down Syndrome Diagnosis” contains the
latest medical and developmental information about people with Down
syndrome as well as local and national resources, pregnancy options and
helpful visuals and graphics. This booklet has been reviewed by all the
major medical organizations involved in expectant mothers’ health. To
request a copy of this booklet, call 704-916-9871 or e-mail tleyton@dsa-gc.org. You may also download a digital copy here.

Brighter Tomorrows provides families with balanced information about receiving a prenatal or postnatal diagnosis of Down syndrome.

A free, downloadable book for expectant parents who have made the decision to continue their pregnancy, Diagnosis to Delivery: A Pregnant Mother’s Guide to Down Syndrome, is available at www.downsyndromepregnancy.org. Includes strategies for coping with a Down syndrome diagnosis, medical guidelines for the first year, and support resources.

Recommended Books

Gifts: Mothers Reflect on How Children with Down Syndrome Enrich Their Lives, edited by Kathryn Lynard Soper. The MDSC has donated copies of Gifts to each public library in Masssachusetts for easy access by expectant and new families. The NDSC has a recommended reading list as well.

AdoptionWe understand that not all birth families feel they are able to meet the needs of children with Down syndrome. The National Down Syndrome Adoption Network
provides information to birth families who may be seeking alternatives
to parenting as they prepare for the arrival of their child. The network
currently has over 200 registered families, each waiting to adopt a
baby with Down syndrome.

(Thank you to the Massachusetts Down Syndrome Congress for supporting the DSAGC's Parent First Call Program.)